Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs142343894
rs142343894
4 0.851 0.080 1 240493250 missense variant G/C snv 1.7E-03 1.8E-03 0.010 1.000 1 2018 2018